Simsek-Kiper PÖ - Search Results

1

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F. Van Damme T, et al. Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14. Genet Med. 2016. PMID: 26765342 Free article.

2

A mutation screen in patients with Kabuki syndrome.

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748

3

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Simşek-Kiper PO, et al. Turk J Pediatr. 2011 Sep-Oct;53(5):558-60. Turk J Pediatr. 2011. PMID: 22272459

4

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K. Şimşek-Kiper PÖ, et al. Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9. Clin Genet. 2013. PMID: 22420426

5

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G. Lorenz S, et al. Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335589

6

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Şimşek-Kiper PÖ, Bayram Y, Ütine GE, Alanay Y, Boduroğlu K. Şimşek-Kiper PÖ, et al. Turk J Pediatr. 2014 Jan-Feb;56(1):80-4. Turk J Pediatr. 2014. PMID: 24827952

7

Celiac disease in Williams-Beuren syndrome.

Simşek-Kiper PO, Sahin Y, Arslan U, Alanay Y, Boduroğlu K, Orhan D, Ozen H, Unite GE. Simşek-Kiper PO, et al. Turk J Pediatr. 2014 Mar-Apr;56(2):154-9. Turk J Pediatr. 2014. PMID: 24911849

8

Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

Kurt-Sukur ED, Simsek-Kiper PO, Utine GE, Boduroglu K, Alanay Y. Kurt-Sukur ED, et al. Am J Med Genet A. 2015 Sep;167A(9):2065-74. doi: 10.1002/ajmg.a.37122. Epub 2015 Apr 30. Am J Med Genet A. 2015. PMID: 25931420

9

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

Utine GE, Şimşek-Kiper PÖ, Akgün-Doğan Ö, Ürel-Demir G, Alanay Y, Aktaş D, Boduroğlu K, Tunçbilek E, Alikaşifoğlu M. Utine GE, et al. Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:76-80. doi: 10.1016/j.ejogrb.2017.12.028. Epub 2017 Dec 16. Eur J Obstet Gynecol Reprod Biol. 2018. PMID: 29275276

10

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K. Simsek-Kiper PO, et al. Eur J Med Genet. 2019 Jan;62(1):21-26. doi: 10.1016/j.ejmg.2018.04.013. Epub 2018 Apr 25. Eur J Med Genet. 2019. PMID: 29704686

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